Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition

Shereen G. Ghosh, Sangmoon Lee, Rudy Fabunan, Guoliang Chai, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Tipu Sultan, Tawfeg Ben‐Omran, Javeria Raza Alvi, Jennifer McEvoy‐Venneri, Valentina Stanley, Aakash V. Patel, Danica Ross, Jeffrey Ding, Mohit Jain, Daqiang Pan, Philipp Lübbert, Bernd Kammerer, Nils Wiedemann, Nanda M. Verhoeven‐Duif, Judith Jans, David Murphy, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Ehsan Ghayoor Karimiani, Khalid Ibrahim, Elizabeth R. Waters, Reza Maroofian, Joseph G. Gleeson